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57 A3-year-old boy is admitted to the hospital because of an 18-month history of recurring fractures of the long bones There is no family history of bone disease. He is at the 5th percentile for height and the 10th percentile for weight. Physical examination shows bowing and deformities of the lower limbs. X-rays of the long bones show evidence of previous fractures and osteopenia A biopsy specimen of skin shows unstable collagen, type l Further analysis shows a single point mutation in one of the genes encoding collagen, type I. This mutation most likely caused which of the following amino acid substitutions in this patient? O A) Ala-Asp O B) Glu-Gin O C) Gly-Leu O D) Tyr-Trp O E) Val-Ala

57 A3-year-old boy is admitted to the hospital because of an 18-month history of recurring fractures of the long bones There is no family history of bone disease. He is at the 5th percentile for height and the 10th percentile for weight. Physical examination shows bowing and deformities of the lower limbs. X-rays of the long bones show evidence of previous fractures and osteopenia A biopsy specimen of skin shows unstable collagen, type l Further analysis shows a single point mutation in one of the genes encoding collagen, type I. This mutation most likely caused which of the following amino acid substitutions in this patient? O A) Ala-Asp O B) Glu-Gin O C) Gly-Leu O D) Tyr-Trp O E) Val-Ala

Phlebotomy Essentials
Phlebotomy Essentials
6th Edition
ISBN:9781451194524
Author:Ruth McCall, Cathee M. Tankersley MT(ASCP)
Publisher:Ruth McCall, Cathee M. Tankersley MT(ASCP)
Chapter1: Phlebotomy: Past And Present And The Healthcare Setting
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57. A 3-year-old boy is admitted to the hospital because of an 18-month history of recurring fractures of the long bones. There is no family history of bone disease. He is at the 5th percentile for height and the 10th percentile for weight. Physical examination shows bowing and deformities of the lower limbs. X-rays of the long bones show evidence of previous fractures and osteopenia. A biopsy specimen of skin shows unstable collagen, type I. Further analysis shows a single point mutation in one of the genes encoding collagen, type I. This mutation most likely caused which of the following amino acid substitutions in this patient? OA) Ala-Asp OB) Glu-GIn OC) Gly-Leu OD) Tyr-Trp E) Val-Ala
Transcribed Image Text:57. A 3-year-old boy is admitted to the hospital because of an 18-month history of recurring fractures of the long bones. There is no family history of bone disease. He is at the 5th percentile for height and the 10th percentile for weight. Physical examination shows bowing and deformities of the lower limbs. X-rays of the long bones show evidence of previous fractures and osteopenia. A biopsy specimen of skin shows unstable collagen, type I. Further analysis shows a single point mutation in one of the genes encoding collagen, type I. This mutation most likely caused which of the following amino acid substitutions in this patient? OA) Ala-Asp OB) Glu-GIn OC) Gly-Leu OD) Tyr-Trp E) Val-Ala
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